Mass Screening for Inborn Errors of Metabolism

Research output: Contribution to journalReview article

Abstract

Neonatal mass screening is a project aiming at the prevention of disorders by discovering and treating diseases which damage health left untreated in all newborns. The bacterial inhibition assay (BIA) was developed in about .1961 and used as the Guthrie method for a long time, but it was replaced by tandem mass spectrometry due to the recent development of mass spectrometers, and its nationwide introduction in Japan was completed. With this introduction, 13 diseases were newly included in screening. Fatty acid and organic acid metabolic disorders and urea cycle disorders were included, and favorable results have been obtained.

Original languageEnglish
Pages (from-to)441-449
Number of pages9
JournalRinsho byori. The Japanese journal of clinical pathology
Volume63
Issue number4
Publication statusPublished - 01-04-2015

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Inborn Errors Metabolism
Mass Screening
Inborn Urea Cycle Disorder
Neonatal Screening
Tandem Mass Spectrometry
Japan
Fatty Acids
Acids
Health

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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Mass Screening for Inborn Errors of Metabolism. / Ito, Tetsuya.

In: Rinsho byori. The Japanese journal of clinical pathology, Vol. 63, No. 4, 01.04.2015, p. 441-449.

Research output: Contribution to journalReview article

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